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Cystic fibrosis presenting with recurrent vomiting and metabolic alkalosis

P M Mathew1, J A Hamdan, H Nazer

  • 1Department of Paediatrics, Dhahran Health Centre, Saudi Arabia.

Insights

Cystic Fibrosis (CF) affects Saudi Arabian children, with an incidence of 1 in 4243. Early diagnosis is crucial, especially in infants presenting with hypoelectrolytaemia and metabolic alkalosis, even without chest symptoms.

Area of Science:

  • Pediatrics
  • Medical Genetics
  • Public Health

Background:

  • This study investigates the incidence and presentation of Cystic Fibrosis (CF) in Saudi Arabian children.
  • Data was collected from healthcare facilities of the Saudi Arabian Oil Co. (Saudi Aramco) in the Eastern Province between 1980 and 1987.
  • Understanding CF prevalence in specific populations is vital for public health strategies.

Observation:

  • Ten Saudi Arabian children were diagnosed with Cystic Fibrosis (CF) during the study period.
  • The calculated incidence of CF in Saudi children aged 14 years or younger was 1 in 4243.
  • A significant proportion (50%) of diagnosed children presented with hypoelectrolytaemia and metabolic alkalosis.

Findings:

  • Two of the five children with hypoelectrolytaemia and metabolic alkalosis initially showed no respiratory symptoms, presenting primarily with recurrent vomiting.
  • These findings highlight a subset of CF patients where initial presentation may be non-respiratory.
  • The study underscores the importance of considering CF in the differential diagnosis of unexplained electrolyte imbalances in children.

Implications:

  • Early exclusion of Cystic Fibrosis (CF) should be considered in the diagnostic workup for infants presenting with hypoelectrolytaemia and metabolic alkalosis.
  • This approach can lead to earlier diagnosis and intervention, potentially improving patient outcomes.
  • Healthcare providers should maintain a high index of suspicion for CF in pediatric patients with these metabolic derangements, irrespective of respiratory signs.

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